ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1753C>T (p.Gln585Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003786522 SCV004570620 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln585*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant is present in population databases (rs776817542, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 36819107). For these reasons, this variant has been classified as Pathogenic.

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